ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.25G>A (p.Ala9Thr)

gnomAD frequency: 0.00001  dbSNP: rs770499988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001788941 SCV002030105 uncertain significance Fanconi anemia complementation group I 2021-05-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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